Lymphangioleiomyomatosis is a severe and very rare lung disease that affects almost exclusively women. Because of its nonspecific symptoms, the disease is usually recognized late or misdiagnosed, so it is not always treated properly.
What is lymphangioleiomyomatosis?
Lymphangioleimyomatosis is one of the rare lung diseases. It is caused by a spontaneously acquired or inherited genetic defect. As the disease progresses, excessive proliferation of smooth muscle cells occurs in the lymphatic vessels and bronchial ducts. These destroy the healthy lung tissue, thus impeding the vital oxygen uptake in the lungs. Research has been intensively pursued for several years in order to improve treatment options. The course of lymphangioleiomyomatosis is usually chronic and, as lymphangioleiomyomatosis progresses, leads to a persistent, life-threatening lack of oxygen.
Causes
The causes of lymphangioleiomyomatosis are not yet 100 percent understood. In part, the disease appears to be due to a genetic alteration that leads to severe restructuring of the lungs and kidneys. This is accompanied by a gradual loss of function of these organs. Over time, the uncontrolled growth of the smooth muscle cells destroys the healthy lung tissue, which increasingly restricts the breathing of those affected. The reason for this is that the protein tuberin is missing, resulting in the excessive proliferation of the smooth muscle cells. It has been observed that they grow normally again when tuberin is experimentally added to the LAM cells. Since LAM usually develops before menopause, it is suspected that various hormones, such as estrogen, contribute to lymphangioleiomyomatosis. Estrogen appears to promote LAM cell growth, so high-dose medroxyprogesterone is usually prescribed as part of therapy.
Symptoms, complaints, and signs
The initial symptoms of lymphangioleiomyomatosis, which are quite nonspecific and thus may also occur in numerous other lung diseases, include dyspnea or shortness of breath, especially during physical exertion, moderate chest pain, cough, sometimes with blood-containing secretions, and chest pain. However, there are few objectifiable examination findings. Many patients present with pneumothorax, and symptoms often increase during pregnancy and air travel. In addition, chylothorax (accumulation of lymphatic fluid) is observed. Renal angiomyolipomas (benign hamartomatous renal tumors) occur in up to 50 percent of affected individuals. These can cause bleeding, which in the very extensive state often manifests as hematuria (blood in the urine) or flank pain. Enlarged retroperitoneal lymph nodes are also found in approximately 70 percent of those with the disease.
Diagnosis and course of the disease
Because lymphangioleiomyomatosis is very rare and usually begins inconspicuously, the correct diagnosis is usually made late. Often, up to four years elapse between the onset of symptoms and diagnosis. The disease is often misdiagnosed as emphysema or bronchial asthma because of the similar symptoms. Possible examination methods include lung biopsy or computed tomography, and CT radiological findings are typical and usually allow the diagnosis to be made. X-ray examination of the lungs may be unremarkable, especially in the early stages. Reticulonodular interstitial infiltrates are present in approximately 30 percent of affected individuals. In 60 percent of patients, there are also cysts, which are usually diffusely distributed and thin-walled. They have a diameter of approximately 0.5 to five centimeters. In many affected individuals, the cysts are located on the entire lung. They are surrounded by healthy lung tissue. Lymphangioleiomyomatosis is a severe disease that progresses chronically and eventually leads to severely restricted breathing. Patients are less and less able to cope physically. In about 50 percent of patients, severe symptoms such as a collapsed lung (pneumothorax) occur during the course of the disease. In some cases, the disease also causes benign kidney tumors, growths in the abdominal cavity or enlarged lymph nodes. Unfortunately, lymphangioleiomyomatosis cannot yet be cured.
Complications
As a result of lymphangioleiomyomatosis, affected individuals primarily suffer from severe shortness of breath. This leads to permanent fatigue and exhaustion of the patient. The disease also considerably reduces the ability of those affected to cope with stress, resulting in various restrictions in everyday life. It is not uncommon for patients to suffer from a cough or chest pain. Lymphangioleiomyomatosis also reduces the ability of the affected person to cope with stress, so that it is no longer possible to carry out normal activities without further ado. Furthermore, the patient may also experience bloody urine or pain in the flanks. The lymph nodes are also significantly swollen in the affected person and there is a significantly reduced quality of life. Treatment of lymphangioleiomyomatosis is done with the help of medications. In severe cases, however, transplantation of the lungs is necessary so that the affected person can continue to survive. It cannot be universally predicted whether complications will occur. The further course of the disease also depends strongly on the general condition of the patient. As a rule, the disease does not recur after successful treatment.
When should you see a doctor?
Shortness of breath on exertion as well as chest pain indicate a serious condition that needs to be clarified. Women who experience a first-time onset or increase in these symptoms should consult their primary care physician. The same applies to signs of asthma or lung disease. If there is a concrete suspicion of lymphangioleiomyomatosis, the lung specialist must be consulted. He or she can diagnose the disease by means of a lung biopsy and initiate therapy immediately. If this is done at an early stage, late complications can possibly still be ruled out. Advanced lymphangioleiomyomatosis can usually only be treated symptomatically, although the symptoms can be reduced by a lung transplant. Persons who belong to the risk groups or who already suffer from a disease of the lung from which a serious secondary disease could develop are best advised to talk to their family doctor. He or she can perform an initial examination and, if necessary, refer the patient to a specialist in internal diseases. Despite a low risk of recurrence, the patient must have regular checkups after treatment is completed.
Treatment and therapy
Treatment of lymphangioleiomyomatosis consists of the following pillars: General treatment of symptoms such as administration of bronchospasmolytics and long-term oxygen therapy, interventional procedures such as pleurodesis (sclerotherapy of the pleural space), and administration of hormonal drugs. If these treatment methods remain unsuccessful, there is the possibility of a lung transplant. In addition, bronchodilators are used individually, which lead to the widening of the bronchial passages so that the shortness of breath is relieved. To stop cell growth, specific-acting drugs are used that interfere with molecular processes of lymphangioleiomyomatosis. Another treatment option is the administration of immunosuppressants. The substance sirolimus inhibits the mTOR-mediated signaling pathway, which promotes cell growth and is overactivated in the disease due to the genetic defect. Results of one study showed that lung function improved significantly as a result. However, after termination of the therapy, the disease progressed again, so that a permanent therapy is necessary, but with the consideration of the numerous side effects. Therefore, the treatment is more recommended in the case of aggressive disease progression. In case of complications of lymphangioleiomyomatosis, further procedures are used, for example, pleurodesis, adhesion of the pleural space, in case of frequent lymphatic effusion or lung collapse. If tuberous sclerosis develops, further complications are possible and must also be treated. Lung transplantation is currently the only curative option for lymphangioleiomyomatosis. However, only a few patients are eligible for this. They must be younger and in good general health. The capacity of donor organs is also limited. Once a transplant has been successfully performed, the disease is rarely expected to recur.
Outlook and prognosis
The prognosis of lymphangioleiomyomatosis depends on the time of diagnosis and the possibility of treatment.Often, the disease is discovered late, so that it is already very advanced. This complicates the treatment options and leads to an unfortunate course of the disease. Most often, the disease is mistaken for another. This leads to a lack of proper treatment that could lead to a basic cure of lymphangioleiomyomatosis. The lung disease is associated with numerous side effects and impairments. The resilience of the affected person is severely limited and the quality of life is diminished. This leads to an increased risk of secondary disorders. Psychological problems can occur, which can trigger further disorders. In particularly severe cases, the patient needs a donor organ. The transplantation of a lung is associated with numerous challenges. The operation does not always succeed free of complications. In addition, the subsequent therapy is exhausting and debilitating for the affected person. Patients are exposed to long-term therapy, as the administration of medication is necessary afterwards. This is intended to prevent rejection reactions and at the same time optimize the functional activity of the lungs. Nevertheless, the overall prognosis is additionally linked to the general state of health of the patient and the presence of other diseases. The older the patient and the more preexisting diseases, the less favorable the prognosis.
Prevention
Prevention of lymphangioleiomyomatosis is not possible. But there are several measures that can be taken to improve the patient’s quality of life. These include, for example, respiratory physiotherapy exercises to promote lung capacity, abstaining from nicotine, and vaccination against influenza and pneumococcus.
Follow-up
Lymphangioleiomyomatosis can usually lead to a number of different symptoms and complications, so those affected by this disease should definitely see a doctor to avoid further worsening of symptoms. Here, early diagnosis has a positive effect on the further course of this disease. Most of those affected suffer from shortness of breath due to lymphangioleiomyomatosis and thus also from permanent fatigue and exhaustion. There is also severe pain in the chest area and furthermore a cough. Most patients therefore additionally suffer from sleep complaints when these symptoms occur at night. Sometimes a visit to a salt cave can help to clear the airways and provide short-term relief from the symptoms. Furthermore, lymphangioleiomyomatosis is often associated with pain in the flanks. Most of the affected people show anemia in the process and are unable to concentrate or participate properly in everyday life. The loving sympathy and support of friends and family can have a significant positive impact on recovery. A complete cure of lymphangioleiomyomatosis cannot always be achieved. Therefore, in some cases, the life expectancy of the affected person is also reduced due to the disease.
What you can do yourself
Lymphangioleiomyomatosis can be treated exclusively with medication or surgery. If the prescribed medications achieve the desired effect, patients should support the positive effects by making gradual lifestyle adjustments. Initially, moderate exercise is recommended, which strengthens lung function and boosts the immune system. In the further course, physical exercise can be intensified. Yoga or physiotherapy are some of the options. The physician should first measure the lung capacity so that the physiotherapy can be optimally adjusted. Strict intake of the medication is essential. If the drug is not taken or even discontinued, the lung function will deteriorate further. Untreated lymphangioleiomyomatosis causes severe damage to the lungs, necessitating lung transplantation. Such an operation puts an enormous strain on the body, which is why rest and sparing are necessary in any case. In addition, the patient should follow the doctor’s instructions regarding diet and physical exercise. Regular monitoring of the patient’s health is important. If complications arise, the physician must be informed so that complications can be quickly recognized and treated.Whether and to what extent conservative treatment can be supported by natural remedies can be answered by the responsible physician.
